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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2000 2
2002 1
2006 2
2007 1
2008 1
2009 1
2011 3
2012 5
2013 6
2014 5
2015 4
2016 5
2017 3
2018 6
2019 9
2020 7
2021 7
2022 1
2023 9
2024 0

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73 results

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Page 1
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.
Lee H, Huang AY, Wang LK, Yoon AJ, Renteria G, Eskin A, Signer RH, Dorrani N, Nieves-Rodriguez S, Wan J, Douine ED, Woods JD, Dell'Angelica EC, Fogel BL, Martin MG, Butte MJ, Parker NH, Wang RT, Shieh PB, Wong DA, Gallant N, Singh KE, Tavyev Asher YJ, Sinsheimer JS, Krakow D, Loo SK, Allard P, Papp JC; Undiagnosed Diseases Network; Palmer CGS, Martinez-Agosto JA, Nelson SF. Lee H, et al. Among authors: fogel bl. Genet Med. 2020 Mar;22(3):490-499. doi: 10.1038/s41436-019-0672-1. Epub 2019 Oct 14. Genet Med. 2020. PMID: 31607746 Free PMC article.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ. Rafehi H, et al. Among authors: fogel bl. Am J Hum Genet. 2023 Jan 5;110(1):105-119. doi: 10.1016/j.ajhg.2022.11.015. Epub 2022 Dec 8. Am J Hum Genet. 2023. PMID: 36493768 Free PMC article.
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer E, Vasques X, Rankin J, Allain MW, Applegate CD, Attaripour Isfahani S, Baleine J, Balint B, Bassetti JA, Baple EL, Bhatia KP, Blanchet C, Burglen L, Cambonie G, Seng EC, Bastaraud SC, Cyprien F, Coubes C, d'Hardemare V; Deciphering Developmental Disorders Study; Doja A, Dorison N, Doummar D, Dy-Hollins ME, Farrelly E, Fitzpatrick DR, Fearon C, Fieg EL, Fogel BL, Forman EB, Fox RG; Genomics England Research Consortium; Gahl WA, Galosi S, Gonzalez V, Graves TD, Gregory A, Hallett M, Hasegawa H, Hayflick SJ, Hamosh A, Hully M, Jansen S, Jeong SY, Krier JB, Krystal S, Kumar KR, Laurencin C, Lee H, Lesca G, François LL, Lynch T, Mahant N, Martinez-Agosto JA, Milesi C, Mills KA, Mondain M, Morales-Briceno H; NIHR BioResource; Ostergaard JR, Pal S, Pallais JC, Pavillard F, Perrigault PF, Petersen AK, Polo G, Poulen G, Rinne T, Roujeau T, Rogers C, Roubertie A, Sahagian M, Schaefer E, Selim L, Selway R, Sharma N, Signer R, Soldatos AG, Stevenson DA, Stewart F, Tchan M; Undiagnosed Diseases Network; Verma IC, de Vries BBA, Wilson JL, Wong DA, Zaitoun R, Zhen D… See abstract for full author list ➔ Cif L, et al. Among authors: fogel bl. Brain. 2020 Dec 5;143(11):3242-3261. doi: 10.1093/brain/awaa304. Brain. 2020. PMID: 33150406 Free PMC article.
Clinical exome sequencing for genetic identification of rare Mendelian disorders.
Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF. Lee H, et al. Among authors: fogel bl. JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604. JAMA. 2014. PMID: 25326637 Free PMC article.
α-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson's disease from multiple system atrophy.
Dutta S, Hornung S, Kruayatidee A, Maina KN, Del Rosario I, Paul KC, Wong DY, Duarte Folle A, Markovic D, Palma JA, Serrano GE, Adler CH, Perlman SL, Poon WW, Kang UJ, Alcalay RN, Sklerov M, Gylys KH, Kaufmann H, Fogel BL, Bronstein JM, Ritz B, Bitan G. Dutta S, et al. Among authors: fogel bl. Acta Neuropathol. 2021 Sep;142(3):495-511. doi: 10.1007/s00401-021-02324-0. Epub 2021 May 15. Acta Neuropathol. 2021. PMID: 33991233 Free PMC article.
Autosomal-recessive cerebellar ataxias.
Fogel BL. Fogel BL. Handb Clin Neurol. 2018;147:187-209. doi: 10.1016/B978-0-444-63233-3.00013-0. Handb Clin Neurol. 2018. PMID: 29325611
Late-onset hereditary ataxias with dementia.
Linares AJ, Fogel BL. Linares AJ, et al. Among authors: fogel bl. Curr Opin Neurol. 2023 Aug 1;36(4):324-334. doi: 10.1097/WCO.0000000000001170. Epub 2023 Jun 2. Curr Opin Neurol. 2023. PMID: 37382141 Review.
Childhood cerebellar ataxia.
Fogel BL. Fogel BL. J Child Neurol. 2012 Sep;27(9):1138-45. doi: 10.1177/0883073812448231. Epub 2012 Jul 4. J Child Neurol. 2012. PMID: 22764177 Free PMC article. Review.
Emerging therapies in Friedreich's ataxia.
Aranca TV, Jones TM, Shaw JD, Staffetti JS, Ashizawa T, Kuo SH, Fogel BL, Wilmot GR, Perlman SL, Onyike CU, Ying SH, Zesiewicz TA. Aranca TV, et al. Among authors: fogel bl. Neurodegener Dis Manag. 2016;6(1):49-65. doi: 10.2217/nmt.15.73. Neurodegener Dis Manag. 2016. PMID: 26782317 Free PMC article. Review.
Clinical exome sequencing in neurologic disease.
Fogel BL, Satya-Murti S, Cohen BH. Fogel BL, et al. Neurol Clin Pract. 2016 Apr;6(2):164-176. doi: 10.1212/CPJ.0000000000000239. Neurol Clin Pract. 2016. PMID: 27104068 Free PMC article. Review.
73 results